Varaico: Literature-Extracted Genetic Variants

Gene:SHROOM3
Variant:p.K1576E
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SHROOM3

NM_020859.4:p.K1576E

Associated Papers

Family-based exome sequencing identifies candidate genes related to keratoconus in Chinese families.

Xu L et al.

Frontiers in Genetics, 2022

Genomic characterization of Chinese ovarian clear cell carcinoma identifies driver genes by whole exome sequencing.

Yang Q et al.

Neoplasia (new York, N.y.), 2020

Dysregulation of neuron differentiation in an autistic savant with exceptional memory.

Song J et al.

Molecular Brain, 2019

31699123 (PubMed )
Supplement: 13041_2019_507_MOESM1_ESM.xlsx › SNPs_merged_1000g_deleterious

A novel ZIC3 gene mutation identified in patients with heterotaxy and congenital heart disease.

Li S et al.

Scientific Reports, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."